NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) AND Inborn genetic diseases

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 7, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002318702.9

Allele description [Variation Report for NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])]

NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])

Gene:

KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p11.21

Genomic location:

Preferred name:

NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])

HGVS:

NC_000008.10:g.41790687_41790698del
NC_000008.11:g.41933180_41933191del
NG_042093.1:g.123847_123858del
NM_006766.5:c.5040_5051delMANE SELECT
NP_006757.2:p.1677_1680QQPQ[1]
NC_000008.10:g.41790687_41790698del
NC_000008.10:g.41790687_41790698delTGCGGCTGCTGT
NC_000008.10:g.41790698_41790709del
NM_006766.3:c.5040_5051del
NM_006766.3:c.5040_5051del12

Links:

dbSNP: rs548231613

NCBI 1000 Genomes Browser:

rs548231613

Molecular consequence:

NM_006766.5:c.5040_5051del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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MULTISPECIES: nuclear transport factor 2 family protein [Klebsiella]
MULTISPECIES: nuclear transport factor 2 family protein [Klebsiella]
gi|496082569|ref|WP_008807076.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850002	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Dec 7, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850002

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Dec 7, 2018)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850002.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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